12p13.31微缺失致胎儿宫内发育迟缓的遗传学分析  

Genetic analysis of a fetus with 12p13.31 microdeletion induced intrauterine growth retardation

作　　者：张艳[1] 林堃 曾丽娜[1] 林荔[1] 董娴[1] 陈煌辉 Zhang Yan;Lin Kun;Zeng Lina;Lin Li;Dong Xian;Chen Huanghui(Center of Prenatal Diagnosis,the Affiliated Hospital of Putian College,Putian 351100,China;General Surgery,Putian 95 Hospital of China Rong Tong Healthcare Group,Putian 351100,China)

机构地区：[1]莆田学院附属医院产前诊断中心,莆田351100 [2]中国融通医疗健康集团莆田九十五医院普通外科,莆田351100

出　　处：《国际遗传学杂志》2023年第5期343-348,共6页International Journal of Genetics

基　　金：福建省中青年教师教育科研项目(JAT200536)。

摘　　要：目的对1例超声提示脉络丛囊肿的胎儿行介入性产前诊断及遗传学分析, 探讨相关遗传学病因。方法采集胎儿羊水及其父母外周血样本, 行染色体核型分析及单核苷酸多态性微阵列芯片(single nucleotide polymorphism array, SNP-array)技术检测拷贝数变异。结果胎儿及其父母的染色体核型均未见明显异常。胎儿SNP-array检测结果提示12号染色体p13.31区段存在1.8 Mb片段的缺失, 为新发生变异。胎儿父母外周血SNP-array检测均未发现异常。后期超声确诊胎儿宫内发育迟缓。结论联合染色体核型分析及SNP-array检测, 产前确诊1例12p13.31微缺失胎儿, 并后期超声确诊胎儿宫内发育迟缓, 从而明确12p13.31微缺失是胎儿宫内发育迟缓的病因, 给予孕妇准确的遗传咨询。Objective To explore the genetic basis of a fetus with intrauterine growth retardation.Methods Fetal amniotic fluid and peripheral blood samples were collected for G-banding karyotype analysis and single nucleotide polymorphism array(SNP-array)detection.Results The chromosome karyotypes of the fetus and its parents were normal.SNP-array showed the fetus had carried 1.8 Mb microdeletion at 12p13.31,which was a new mutation.Ultrasonography showed intrauterine growth retardation.Conclusion A prenatal diagnosis of fetus with 12p13.31 microdeletion induced intrauterine growth retardation was confirmed,which has provided guidance for her subsequent pregnancy.

关 键 词：12p13.31微缺失 胎儿宫内发育迟缓 产前诊断 单核苷酸多态性微阵列芯片 

分 类 号：R714.55[医药卫生—妇产科学]